nsv3896331
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:15,138,935
- Description:GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 33577 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 33578 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 9088 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3896331 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 164,922,655 | 180,061,589 |
| nsv3896331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 164,891,892 | 180,030,724 |
| nsv3896331 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 163,158,516 | 178,297,347 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133508 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051856.5, VCV000058111.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133508 | Submitted genomic | NC_000001.11:g.(?_ 164922655)_(180061 589_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 164,922,655 | 180,061,589 |
| nssv15133508 | Submitted genomic | NC_000001.10:g.(?_ 164891892)_(180030 724_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 164,891,892 | 180,030,724 |
| nssv15133508 | Submitted genomic | NC_000001.9:g.(?_1 63158516)_(1782973 47_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 163,158,516 | 178,297,347 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133508 | GRCh37: NC_000001.10:g.(?_164891892)_(180030724_?)dup, GRCh38: NC_000001.11:g.(?_164922655)_(180061589_?)dup, NCBI36: NC_000001.9:g.(?_163158516)_(178297347_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051856.5, VCV000058111.1 | 3 |